Canonical Allele Identifier: CA8699982

Gene: ACE

Linked Data

• dbSNP Id: rs779433192
• ExAC: 17:61564352 C / A
• gnomAD v2: 17-61564352-C-A
• gnomAD v4: 17-63486991-C-A
• MyVariant Identifiers: chr17:g.61564352C>A (hg19) ; chr17:g.63486991C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63486991C>A , CM000679.2:g.63486991C>A	GRCh38
NC_000017.10:g.61564352C>A , CM000679.1:g.61564352C>A	GRCh37
NC_000017.9:g.58918084C>A	NCBI36
NG_011648.1:g.14919C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2223C>A MANE Select	ENSP00000290866.4:p.Asn741Lys
ENST00000290863.10:c.501C>A	ENSP00000290863.6:p.Asn167Lys
ENST00000290866.9:c.2223C>A	ENSP00000290866.4:p.Asn741Lys
ENST00000413513.7:c.501C>A	ENSP00000392247.3:p.Asn167Lys
ENST00000428043.5:c.2223C>A	ENSP00000397593.2:p.Asn741Lys
ENST00000577647.2:c.501C>A	ENSP00000464149.1:p.Asn167Lys
ENST00000578839.5:c.*293C>A	ENSP00000462110.2:n.*293C>A
ENST00000579204.1:c.404C>A	ENSP00000464629.1:n.404C>A
ENST00000579314.5:c.501C>A	ENSP00000462599.1:p.Asn167Lys
ENST00000579726.5:c.785C>A
ENST00000582005.5:c.*143C>A	ENSP00000462002.1:n.*143C>A
ENST00000584865.5:n.169C>A
NM_000789.3:c.2223C>A	NP_000780.1:p.Asn741Lys
NM_001178057.1:c.501C>A	NP_001171528.1:p.Asn167Lys
NM_152830.2:c.501C>A	NP_690043.1:p.Asn167Lys
XM_005257110.1:c.1674C>A	XP_005257167.1:p.Asn558Lys
XM_006721737.2:c.561C>A	XP_006721800.2:p.Asn187Lys
XM_006721737.3:c.561C>A	XP_006721800.2:p.Asn187Lys
NM_000789.4:c.2223C>A MANE Select	NP_000780.1:p.Asn741Lys
NM_001178057.2:c.501C>A	NP_001171528.1:p.Asn167Lys
NM_152830.3:c.501C>A	NP_690043.1:p.Asn167Lys
NM_001382700.1:c.1656C>A	NP_001369629.1:p.Asn552Lys
NM_001382701.1:c.1371C>A	NP_001369630.1:p.Asn457Lys
NM_001382702.1:c.153C>A	NP_001369631.1:p.Asn51Lys
NR_168483.1:n.523C>A